Variant #0000574849 (NC_000023.10:g.153641586G>A, TAZ(NM_000116.3):c.281G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153641586G>A
DNA change (hg38) g.154413249G>A
Published as TAZ(NM_000116.3):c.281G>A (p.R94H)
ISCN -
DB-ID TAZ_000042 See all 12 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 +/. - c.281G>A r.(?) p.(Arg94His)
DNASE1L1 NM_001009932.1 +/. - c.-1789C>T r.(?) p.(=)
RPL10 NM_006013.3 +/. - c.*12391G>A r.(=) p.(=)